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Autistic spectrum disorders

Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino
Importance: Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD...
October 19, 2016: JAMA Psychiatry
Naushad Shaik Mohammad, P Sai Shruti, Venkat Bharathi, Chintakindi Krishna Prasad, Tajamul Hussain, Salman A Alrokayan, Usha Naik, Akella Radha Rama Devi
BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD. PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk...
October 17, 2016: Psychiatric Genetics
Yasin Panahi, Fahimeh Salasar Moghaddam, Zahra Ghasemi, Mandana Hadi Jafari, Reza Shervin Badv, Mohamad Reza Eskandari, Mehrdad Pedram
Childhood autism is a severe form of complex genetically heterogeneous and behaviorally defined set of neurodevelopmental diseases, collectively termed as autism spectrum disorders (ASD). Reverse transcriptase quantitative real-time PCR (RT-qPCR) is a highly sensitive technique for transcriptome analysis, and it has been frequently used in ASD gene expression studies. However, normalization to stably expressed reference gene(s) is necessary to validate any alteration reported at the mRNA level for target genes...
October 12, 2016: International Journal of Molecular Sciences
Cath Rogers, Laurence Lepherd, Rahul Ganguly, Sebastian Jacob-Rogers
PROBLEM: Autistic Spectrum Disorder (ASD) is an increasingly commonly diagnosed disability. People with ASD commonly report challenges in social interaction and a heightened sensory perception. These challenges may be particularly difficult for women during pregnancy, birthing and beyond. BACKGROUND: Very little is known about the experiences and needs of birthing women who have ASD. There is a large body of literature about women who have autistic children, but almost nothing about women who may have this disability themselves...
October 14, 2016: Women and Birth: Journal of the Australian College of Midwives
Katherine K M Stavropoulos, Michaela Viktorinova, Adam Naples, Jennifer Foss-Feig, James C McPartland
BACKGROUND: Difficulty with emotion perception is a core feature of autism spectrum disorder (ASD) that is also associated with the broader autism phenotype. OBJECTIVES: The current study explored the neural underpinnings of conscious and non-conscious perceptions of affect in typically developing individuals with varying levels of autistic-like traits, as measured by the Autism Quotient (AQ). We investigated the relationship between autistic traits and face processing efficiency using event-related potentials (ERPs)...
October 18, 2016: Social Neuroscience
Ferhat Yaylaci, Suha Miral
Aim of this study was to compare children diagnosed with Pervasive Developmental Disorder (PDD) according to DSM-IV-TR and DSM-5 diagnostic systems. One hundred fifty children aged between 3 and 15 years diagnosed with PDD by DSM-IV-TR were included. PDD symptoms were reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria. Clinical severity was determined using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). A statistically significant decrease (19.3 %) was detected in the diagnostic ratio with DSM-5...
October 17, 2016: Journal of Autism and Developmental Disorders
Edna Perez, Linda S Behar-Horenstein, Marcio Guelmann
Children with intellectual and physical disabilities including autism are susceptible to dental trauma as a sequela from falls due to poor muscular coordination. In addition, their altered muscle tonus often results in an open bite with labial flaring of the maxillary incisors and lip incompetence, predisposing these teeth to fractures. This case report describes an alternative approach of restoring a fractured maxillary permanent central incisor with a composite strip crown during surgical repositioning of the periodontium on an autistic patient...
September 1, 2016: Journal of Contemporary Dental Practice
Motohisa Hirose, Yoshiyuki Hirano, Kiyotaka Nemoto, Chihiro Sutoh, Kenichi Asano, Haruko Miyata, Junko Matsumoto, Michiko Nakazato, Koji Matsumoto, Yoshitada Masuda, Masaomi Iyo, Eiji Shimizu, Akiko Nakagawa
Obsessive-compulsive disorder (OCD) is known as a clinically heterogeneous disorder characterized by symptom dimensions. Although substantial numbers of neuroimaging studies have demonstrated the presence of brain abnormalities in OCD, their results are controversial. The clinical heterogeneity of OCD could be one of the reasons for this. It has been hypothesized that certain brain regions contributed to the respective obsessive-compulsive dimensions. In this study, we investigated the relationship between symptom dimensions of OCD and brain morphology using voxel-based morphometry to discover the specific regions showing alterations in the respective dimensions of obsessive-compulsive symptoms...
October 11, 2016: Brain Imaging and Behavior
Francesco Margoni, Luca Surian
No abstract text is available yet for this article.
2016: Frontiers in Psychology
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
October 10, 2016: Neurogenetics
Sungji Ha, Hyunjun Park, Usman Mahmood, Jeong Chan Ra, Yoo-Hun Suh, Keun-A Chang
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in social interaction and communication, and patients often display co-occurring repetitive behaviors. Although the global prevalence of ASD has increased over time, the etiology and treatments for ASD are poorly understood. Recently, some researchers have suggested that stem cells have therapeutic potential for ASD. Thus, in the present study, we investigated the therapeutic effects of human adipose-derived stem cells (hASCs), a kind of autologous mesenchymal stem cells (MSCs) isolated from adipose tissue, on valproic acid (VPA)-induced autism model mice...
October 4, 2016: Behavioural Brain Research
Daniel Umbricht, Marta Del Valle Rubido, Eric Hollander, James T McCracken, Frederick Shic, Lawrence Scahill, Jana Noeldeke, Lauren Boak, Omar Khwaja, Lisa Squassante, Christophe Grundschober, Heidemarie Kletzl, Paulo Fontoura
The core symptoms of Autism Spectrum Disorder (ASD) include impaired social communication, repetitive behaviors and restricted interests. No effective pharmacotherapy for these core deficits exists. Within the domain of social communication, the vasopressin system is implicated in social cognition and social signaling deficits of ASD, and represents a potential therapeutic target. We assessed the effects of a single 20 mg intravenous dose of the arginine vasopressin receptor 1A (V1a) antagonist, RG7713, on exploratory biomarkers (eye-tracking), behavioral and clinical measures of social cognition and communication (affective speech recognition [ASR], reading the mind in the eyes [RMET], olfactory identification, scripted interaction), and safety and tolerability in a multicenter, randomized, double-blind, placebo-controlled, cross-over study of 19 high-functioning adult male subjects with DSM-IV Autistic Disorder (age 18-45 years; full scale IQ>70; ABC-Irritability subscale ⩽13)...
October 6, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos, Osvaldo J M Nascimento
BACKGROUND: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers' perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region. CASE PRESENTATION: This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13...
2016: Molecular Cytogenetics
Alessandro Tonacci, Lucia Billeci, Liliana Ruta, Gennaro Tartarisco, Giovanni Pioggia, Sebastiano Gangemi
BACKGROUND: Autism Spectrum Disorder represents a burdensome condition in early childhood, with a number of risk factors proposed to explain its pathogenesis, most of which without a reliable scientific basis. Allergic asthma is likely to be one of the possible comorbilities of autism. EVIDENCE ACQUISITION: In this paper, the relationship between autism and allergic asthma was analyzed through a systematic literature review, conducted according to the PRISMA guidelines...
October 5, 2016: Minerva Pediatrica
Emanuela Balestrieri, Chiara Cipriani, Claudia Matteucci, Natale Capodicasa, Anita Pilika, Ina Korca, Roberta Sorrentino, Ayele Argaw-Denboba, Ilaria Bucci, Martino Tony Miele, Antonella Coniglio, Riccardo Alessandrelli, Paola Sinibaldi Vallebona
Recent studies suggest that autism spectrum disorders (ASD) result from interactions between genetic and environmental factors, whose possible links could be represented by epigenetic mechanisms. Here, we investigated the transcriptional activity of three human endogenous retrovirus (HERV) families, in peripheral blood mononuclear cells (PBMCs) from Albanian ASD children, by quantitative real-time PCR. We aimed to confirm the different expression profile already found in Italian ASD children, and to highlight any social and family health condition emerging from information gathered through a questionnaire, to be included among environmental risk factors...
July 2016: New Microbiologica
Bartolomeo Bertolino, Rosalia Crupi, Daniela Impellizzeri, Giuseppe Bruschetta, Marika Cordaro, Rosalba Siracusa, Emanuela Esposito, Salvatore Cuzzocrea
AIMS: Autism spectrum disorder (ASD) is a condition defined by social communication deficits and repetitive restrictive behaviors. Association of the fatty acid amide palmitoylethanolamide (PEA) with the flavonoid luteolin displays neuroprotective and antiinflammatory actions in different models of central nervous system pathologies. We hypothesized that association of PEA with luteolin might have therapeutic utility in ASD, and we employed a well-recognized autism animal model, namely sodium valproate administration, to evaluate cognitive and motor deficits...
October 4, 2016: CNS Neuroscience & Therapeutics
Paul A G Forbes, Xueni Pan, Antonia F de C Hamilton
Mimicry involves unconsciously copying the actions of others. Increasing evidence suggests that autistic people can copy the goal of an observed action but show differences in their mimicry. We investigated mimicry in autism spectrum disorder (ASD) within a two-dimensional virtual reality environment. Participants played an imitation game with a socially engaged avatar and socially disengaged avatar. Despite being told only to copy the goal of the observed action, autistic participants and matched neurotypical participants mimicked the kinematics of the avatars' movements...
September 30, 2016: Journal of Autism and Developmental Disorders
M Hamza, S Halayem, R Mrad, S Bourgou, F Charfi, A Belhadj
BACKGROUND: The etiology of autism spectrum disorders (ASD) is complex and multifactorial, and the roles of genetic and environmental factors in its emergence have been well documented. Current research tends to indicate that these two factors act in a synergistic manner. The processes underlying this interaction are still poorly known, but epigenetic modifications could be the mediator in the gene/environment interface. The epigenetic mechanisms have been implicated in susceptibility to stress and also in the pathogenesis of psychiatric disorders including depression and schizophrenia...
September 27, 2016: L'Encéphale
Naael H Ali, Shukrya K Khalaf, Jasim N Al-Asadi, Alaa H Abed
BACKGROUND: The etiology of autism is complex, and may involve the interaction between genetic and environmental factors. Recent studies suggested an association between maternal immune response and this disorder. METHODS: Forty-nine women with autistic children (cases) were studied in comparison with 73 women with normal children (controls). After interviewing for sociodemographic and clinical information, mothers' sera were tested for the presence of antineuronal antibodies...
September 26, 2016: Journal of the Chinese Medical Association: JCMA
Chih-Ying Lee, Mu-Hong Chen, Mei-Jy Jeng, Ju-Wei Hsu, Shih-Jen Tsai, Ya-Mei Bai, Giun-Yi Hung, Hsiu-Ju Yen, Tzeng-Ji Chen, Tung-Ping Su
Atopic dermatitis (AD) is one of the common allergic diseases in children. The presence of allergic diseases was found to have association with the risk of developing attention-deficit hyperactivity disorder (ADHD) or autistic spectrum disorder (ASD) in children, but it is still inconclusive. This study was to investigate the longitudinal relationship between AD developed during toddlerhood and subsequent development of ADHD or ASD in later childhood. Toddlers born between 1998 and 2008 and diagnosed with AD at the age younger than 3 years and older than 1 month were retrieved from Taiwan's National Health Insurance Research Database...
September 2016: Medicine (Baltimore)
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